Author

María García Barcina

Hospital de Basurto

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew Martin ChancelloriD· 1 shared Anna HackettiD· 1 shared Anthony Edward LangiD· 1 shared Brent L. FogeliD· 1 shared David J. AmoriD· 1 shared David J. SzmulewicziD· 1 shared David L. ValleiD· 1 shared David P. BreeniD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andrew Martin ChancellorORCID

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1 paper

Recent·Most cited

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Martin Chancellor, Phillip D. Cremer, Martin Bruce Delatycki, , Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

The American Journal of Human Genetics · Jun 20, 2019Peer-reviewedGenetics